Variant report

Variant	rs28480198
Chromosome Location	chr8:61910248-61910249
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61909286..61911091-chr8:61912763..61914485,2	K562	blood:
2	chr8:61909390..61914043-chr8:61914275..61917284,4	K562	blood:
3	chr8:61903857..61905695-chr8:61908821..61910338,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10089780	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10095243	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098608	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957177	0.81[AFR][1000 genomes]
rs12335283	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13261682	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926675	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625476	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35695994	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs716683	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9692725	0.86[ASN][1000 genomes]
rs9693558	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020323	chr8:61901412-61941384	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61908800-61910800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr8:61908800-61910800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:61908800-61911800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:61908800-61912000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:61908800-61912000	Enhancers	Brain Anterior Caudate	brain
6	chr8:61908800-61912000	Enhancers	Brain Hippocampus Middle	brain
7	chr8:61908800-61912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:61908800-61912600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:61908800-61913000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:61908800-61915400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:61909000-61911800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:61909000-61911800	Enhancers	Fetal Brain Female	brain
13	chr8:61909200-61911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:61909200-61911400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:61909200-61911400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:61909200-61911400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:61909200-61911400	Enhancers	Primary T cells from cord blood	blood
18	chr8:61909200-61911600	Enhancers	Fetal Brain Male	brain
19	chr8:61909200-61911800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:61909200-61912000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:61909200-61912000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:61909200-61912000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:61909400-61911400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:61909400-61911800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:61909400-61916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:61909600-61912600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:61909600-61913800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:61909600-61914400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:61909800-61910400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:61909800-61910600	Enhancers	GM12878-XiMat	blood
31	chr8:61909800-61911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:61909800-61911200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:61909800-61911200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:61909800-61912400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:61909800-61912400	Enhancers	Esophagus	oesophagus
36	chr8:61909800-61912600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:61909800-61912600	Enhancers	Fetal Thymus	thymus
38	chr8:61909800-61912600	Enhancers	HMEC	breast
39	chr8:61909800-61913000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:61909800-61913000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:61909800-61913200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:61909800-61913400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:61909800-61913600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr8:61910000-61910800	Enhancers	Adipose Nuclei	Adipose
45	chr8:61910000-61911200	Enhancers	HSMM	muscle
46	chr8:61910000-61912000	Enhancers	Brain Germinal Matrix	brain
47	chr8:61910000-61912600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:61910000-61912600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:61910000-61913000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:61910000-61919400	Enhancers	Primary B cells from peripheral blood	blood

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